Basic Information

VEGFA

Full name: vascular endothelial growth factor A

Gene type: protein coding

HGNC ID: HGNC:12680

Gene location: 6p21.1

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/7422

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:12680

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_003376.6

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P15692

AlphaFold: https://alphafold.ebi.ac.uk/entry/P15692

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/192240

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=7422

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa01521+7422

Variant resources

Gene Disease type Variant type NCBI dbSNP Alleles Variant location
VEGFA Advanced AMD rs4711751/rs943080
VEGFA Advanced AMD Intron Variant rs833069 T>C / T>G chr6:43774842 (GRCh38.p13)
VEGFA 2KB Upstream Variant rs833061 C>G / C>T chr6:43769749 (GRCh38.p13)
VEGFA 5 Prime UTR Variant rs2010963 C>G / C>T chr6:43770613 (GRCh38.p13)
VEGFA Visual acuity score changes from baseline nAMD 3 Prime UTR Variant rs3025039 C>T chr6:43784799 (GRCh38.p13)
VEGFA Fluid Response 2KB Upstream Variant rs699947 A>C / A>T chr6:43768652 (GRCh38.p13)
VEGFA Dominant analysis-wet AMD 2KB Upstream Variant rs1570360 A>G chr6:43770093 (GRCh38.p13)
VEGFA Additive analysis-wet AMD Synonymous Variant rs25648 C>G / C>T chr6:43771240 (GRCh38.p13)
VEGFA AMD Intron Variant rs1413711 T>A / T>C / T>G chr6:43772941 (GRCh38.p13)
VEGFA AMD Intron Variant rs2146323 C>A chr6:43777358 (GRCh38.p13)
VEGFA Intron Variant rs833068 G>A chr6:43774790 (GRCh38.p13)
VEGFA Intron Variant rs3025035 C>T chr6:43783622 (GRCh38.p13)
VEGFA nAMD Intron Variant rs3024997 G>A / G>C chr6:43777370 (GRCh38.p13)
VEGFA nAMD Intron Variant rs3025000 C>G / C>T chr6:43778432 (GRCh38.p13)
VEGFA nAMD Intron Variant rs3025010 T>C / T>G chr6:43779840 (GRCh38.p13)
VEGFA nAMD 3 Prime UTR Variant rs3025040 C>A / C>T chr6:43785314 (GRCh38.p13)
VEGFA 3 Prime UTR Variant rs10434 A>C / A>G / A>T chr6:43785475 (GRCh38.p13)
VEGFA VA improvement after anti-VEGF-3m Intron Variant rs3024994 C>T chr6:43775770 (GRCh38.p13)
VEGFA VA improvement after anti-VEGF-3m Intron Variant rs3025042 G>T chr6:43773714 (GRCh38.p13)
VEGFA VA improvement after anti-VEGF-3m Intron Variant rs3025047 C>T chr6:43778673 (GRCh38.p13)
VEGFA AMD Intron Variant rs3025007 C>T chr6:43779634 (GRCh38.p13）
VEGFA VA improvement after anti-VEGF Intron Variant rs833070 T>A / T>C chr6:43774889 (GRCh38.p13)
VEGFA Early AMD rs3025033